bone marrow failure

[jenb81147]

Hi everyone, I'm new on here and need some advice if anyone can help! I have an (almost) 2 year old who has been diagnosed with 'bone marrow failure'. WBCs are within normal limits, platelets are low but usually above 100,000. RBC infusions are necessary at least monthly. 2 bone marrow biopsies 2 months apart, no blasts, but abnormal results. 2nd bx showed an increase in scar tissue. She gets sick frequently but gets over things, eventually. She does have a chromosome abnormality and has never been very healthy so the MD says she's not a candidate for a bone marrow transplant. 2 big questions for anyone with experience with something similar... She's often very fussy, any idea if she's in pain and if so how much? I really want her to be comfortable. Anyone have any idea how long she will live? Thanks so much for any replies.

[triumphe64]

How long has this been going on?

Is this from a hematologist or a pediatrician? What clinic or hospital?

Do you have any more information about the chromosome abnormality?

[jenb81147]

This started a couple months ago with severe anemia, well actually pancytopenia. She has seen a few pediatric hematologists/ oncologists. The first was at Children's Hospital and so was the 2nd. Recently we found one closer to home. And, she's been diagnosed with 1p36 deletion syndrome. It's kind of rare. I'm assuming that's why her bone marrow is abnormal and failing, but no one has really said that. Do you have any idea if this is capable of causing her severe pain? Thanks so much!

[triumphe64]

I have never heard of 1p36 deletion syndrome, so I looked it up. There was nothing mentioned about anemia or other hematology problems.

I have pure red cell aplasia. I do not make red blood cells. There is a genetic form of this called Diamond Blackfan Anemia. It is also very rare. Have the doctors ruled that out?

[jenb81147]

I have looked that up in the past and some things didn't quite match up. She needs another transfusion. Hgb 6.2 today but we have to take her to the big city. Locally they won't transfused her as she has some funky antibodies in her blood. How often do you need transfusions? Every 3 weeks just seems so often, unless she has some hemolysis going on, but that's just my opinion and I ain't no MD! Today her platelets were almost normal and her WBC's were normal. That seems strange too... Do your bones hurt? And for whatever it's worth 1p syndrome is pretty newly found so there's not a lot on it. And she has a 5q duplication so that may change things up a bit too. Thank you so much for responding, I'll look up diamond blackfin again.

[triumphe64]

I have not needed a transfusion for three years. I only know five other people with PRCA. Transfusions every two weeks is common because the red cells "die" normally in everyone. They just aren't being replaced in PRCA. PRCA only affects red cells. That is what caught my attention in your case. All of these counts fluctuate normally and are affected by many factors and "lab error".

My bones do not hurt, but when I was researching earlier this evening I found some references to pain when moving for DBA patients. I tried finding it again but could not.

Please note: I really only know what I have found on the internet. I also know there are at least a couple of other genetic diseases affecting blood.

I did find several doctors with a special interest in DBA, but none were in Colorado.

At least you have some questions to ask your doctors in Denver. Some of these things are so rare, they can go a whole career without seeing an actual case. That is something I know from first hand experience.

[mscrzy1]

Just a thought, but if her RBC's are low enough to warrant transfusion, she may be fussy because she's uncomfortable and tired. Low RBC's can cause you to feel incredibly tired. Being that she's so young, my guess is that she's not really wanting to sleep because there's just too much to see and learn. However, she will need quite a bit more sleep than the average 2 year old. She could also be feeling dizzy at times and having a high heart rate making her feel uncomfortable. Sorry, I can't help you with much else. I hope you're able to get some definitive answers soon!

[triumphe64]

Pagosa Springs is also 7,000 feet elevation. Red Cells and hemaglobin carry the oxygen the body needs. She gets even less at that altitude than those of us who live at more moderate elevations. I have asked about this before, but nobody has confirmed that I am correct or whether the body has some way of adopting.

I looked this up on the map. Maybe you go to Albuquerque as your "big city".

[jenb81147]

Thank you all for your opinions, many times lay people suffering from a disease know as much, if not more about it than the experts! She still seems to be in pain after her transfusions, but she definitely sleeps a lot when she needs them, and even refuses to eat or drink. If we push her, she will usually throw up . As far as the altitude is concerned, as far as I know you are absolutely correct. At altitude compromised individuals will have lower O2 sats. The only way we compensate is by making more RBCs to carry more oxygen, and she can't do that. The only people who have truly adapted are the sherpas! I see people come here to retire and soon after their health starts failing. We're moving to lower altitude when we get older, lol!

[mscrzy1]

Follow your gut. If you feel she's experiencing pain, definitely make note and ask your dr. about it. Maybe try to journal it to see if there is a trend of some sort? And, yes, when she's dealing with really low RBC's, she won't want to eat or drink. When you're low, eating and drinking just seems to take too much effort. All you want to do is sleep. Poor girlie.

[triumphe64]

Expanding on my Dr. House routine, I thought of another possibility. PRCA can be caused by, Fifth Disease, a common childhood disease most of us get but most never even know we have. It is caused by Human Parvo Virus B19. One of the rare symptoms of B19, is PRCA, but it usually is temporary.

[jenb81147]

Yes, the doctor originally diagnosed her with TEC, transient eurethroblastopenia of childhood, maybe just being hopeful. He had no idea what the cause may be, but she did test negative for fifths disease. But, it doesn't appear to be transient at this point. Usually that is resolving by the time it's found, if it ever gets bad enough to be diagnosed. Then he was pretty sure she was just in transition to leukemia, but no, didn't find that. I think he was trying all the best case scenarios before he had to admit it wasn't so good. Last weekend, in the hospital, they began to believe she has MRSA around her central line port. We don't have the C&S back yet to confirm and I don't know what the labwork looked like there, but they had her on neutropenic precautions. Now I'm worried the MRSA infection will take her much sooner than I expected.

[triumphe64]

I'm sure all of their efforts at this point will be to control the MRSA. We will all hope and pray for you both.

[gina66]

MRSA may be the cause of PRCA. Hope she recovers soon. Sometimes, after recovery the body needs to adjust from secondary illness.
Blessing to your child.

[ssdavi71416]

Sorry you and the baby are going through this. I have Aplastic anemia and am 51. When my Hgb blood levels were below 7 I felt really bad and had a terrible upset stomach. You are in my thoughts.

Scott Davidson

[gina66]

Hello. I am so sorry. I hope you find answers soon. Anyway, I have PRCA. Mine is secondary to Parvo virus infection. It is known to cause PRCA but other viruses also maybe can cause PRCA. Does your child has fever frequently, a symptom of infection? Dr. needs to eliminate infection especially if the patient has to take cortisteroid and immune suppresants. IVIG may help to get rid of Parvo virus infection. My theory is long term infection of any kind can affect your auto immune system. T cells, B cells became so hyperactive that they started attacking self (RBC included). I read that your child has some type on antibody disorder. B cells produces antibodies. If they became abnormal, it may have negative effect. There is so much to know but it is good to focus on finding and learning more what may have caused your child to be ill. Right now, she has diagnoses to explore. Best regards.

[gina66]

Where does your child have the scar tissue? Do you know if your child has some athritis symptoms on hands and feet? Those are painful.